LEANDRO TAVARES LUCATO
Projetos de Pesquisa
Unidades Organizacionais
Instituto de Radiologia, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/44 - Laboratório de Ressonância Magnética em Neurorradiologia, Hospital das Clínicas, Faculdade de Medicina
LIM/44 - Laboratório de Ressonância Magnética em Neurorradiologia, Hospital das Clínicas, Faculdade de Medicina
15 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 15
- Advances in diffuse glial tumors diagnosis(2023) GODOY, Luis Filipe de Souza; PAES, Vitor Ribeiro; AYRES, Aline Sgnolf; BANDEIRA, Gabriela Alencar; MORENO, Raquel Andrade; HIRATA, Fabiana de Campos Cordeiro; SILVA, Frederico Adolfo Benevides; NASCIMENTO, Felipe; CAMPOS NETO, Guilherme de Carvalho; GENTIL, Andre Felix; LUCATO, Leandro Tavares; AMARO JUNIOR, Edson; YOUNG, Robert J.; MALHEIROS, Suzana Maria FleuryIn recent decades, there have been significant advances in the diagnosis of diffuse gliomas, driven by the integration of novel technologies. These advancements have deepened our understanding of tumor oncogenesis, enabling a more refined stratification of the biological behavior of these neoplasms. This progress culminated in the fifth edition of the WHO classification of central nervous system (CNS) tumors in 2021. This comprehensive review article aims to elucidate these advances within a multidisciplinary framework, contextualized within the backdrop of the new classification. This article will explore morphologic pathology and molecular/genetics techniques (immunohistochemistry, genetic sequencing, and methylation profiling), which are pivotal in diagnosis, besides the correlation of structural neuroimaging radiophenotypes to pathology and genetics. It briefly reviews the usefulness of tractography and functional neuroimaging in surgical planning. Additionally, the article addresses the value of other functional imaging techniques such as perfusion MRI, spectroscopy, and nuclear medicine in distinguishing tumor progression from treatment-related changes. Furthermore, it discusses the advantages of evolving diagnostic techniques in classifying these tumors, as well as their limitations in terms of availability and utilization. Moreover, the expanding domains of data processing, artificial intelligence, radiomics, and radiogenomics hold great promise and may soon exert a substantial influence on glioma diagnosis. These innovative technologies have the potential to revolutionize our approach to these tumors. Ultimately, this review underscores the fundamental importance of multidisciplinary collaboration in employing recent diagnostic advancements, thereby hoping to translate them into improved quality of life and extended survival for glioma patients.
- Newer Updates in Pediatric Intracranial Infection(2023) UCHOA, Luiz Ricardo Araujo; LUCATO, Leandro Tavares
- Corticomotor excitability is altered in central neuropathic pain compared with non-neuropathic pain or pain-free patients(2023) BARBOSA, Luciana Mendonca; VALERIO, Fernanda; SILVA, Valquiria Aparecida da; RODRIGUES, Antonia Lilian de Lima; GALHARDONI, Ricardo; YENG, Lin Tchia; JUNIR, Jefferson Rosi; CONFORTO, Adriana Bastos; LUCATO, Leandro Tavares; TEIXEIRA, Manoel Jacobsen; ANDRADE, Daniel Ciampi deObjectives: Central neuropathic pain (CNP) is associated with altered corticomotor excitability (CE), which can potentially provide insights into its mechanisms. The objective of this study is to describe the CE changes that are specifically related to CNP.Methods: We evaluated CNP associated with brain injury after stroke or spinal cord injury (SCI) due to neuromyelitis optica through a battery of CE measurements and comprehensive pain, neurological, functional, and quality of life assessments. CNP was compared to two groups of patients with the same disease: i. with non-neuropathic pain and ii. without chronic pain, matched by sex and lesion location.Results: We included 163 patients (stroke=93; SCI=70: 74 had CNP, 43 had non-neuropathic pain, and 46 were pain-free). Stroke patients with CNP had lower motor evoked potential (MEP) in both affected and unaffected hemispheres compared to non-neuropathic pain and no-pain patients. Patients with CNP had lower amplitudes of MEPs (366 mu V +/- 464 mu V) than non-neuro-pathic (478 +/- 489) and no-pain (765 mu V +/- 880 mu V) patients, p < 0.001. Short-interval intracorti-cal inhibition (SICI) was defective (less inhibited) in patients with CNP (2.6 +/- 11.6) compared to no-pain (0.80.7), p = 0.021. MEPs negatively correlated with mechanical and cold-induced allo-dynia. Furthermore, classifying patients' results according to normative data revealed that at least 75% of patients had abnormalities in some CE parameters and confirmed MEP findings based on group analyses.Discussion: CNP is associated with decreased MEPs and SICI compared to non-neuropathic pain and no-pain patients. Corticomotor excitability changes may be helpful as neurophysiological markers of the development and persistence of pain after CNS injury, as they are likely to pro-vide insights into global CE plasticity changes occurring after CNS lesions associated with CNP.(c) 2023 The Author(s).
- Subacute Partially Reversible Leukoencephalopathy Expands the Aicardi-Goutieres Syndrome Phenotype(2023) BARCELOS, Isabella Peixoto de; BUENO, Clarissa; GODOY, Luis Filipe S.; PESSOA, Andre; COSTA, Larissa A.; MONTI, Fernanda C.; SOUZA-CABRAL, Katiane; LISTIK, Clarice; CASTRO, Diego; DELLA-RIPA, Bruno; FREUA, Fernando; PIRES, Lais C.; KRUGER, Lia T.; GHERPELLI, Jose Luiz D.; PIAZZON, Flavia B.; MONTEIRO, Fabiola P.; LUCATO, Leandro T.; KOK, FernandoObjective: To report a series of atypical presentations of Aicardi-Goutieres syndrome. Methods: Clinical, neuroimaging, and genetic data. Results: We report a series of six unrelated patients (five males) with a subacute loss of developmental milestones, pyramidal signs, and regression of communication abilities, with onset at ages ranging from 7 to 20 months, reaching a nadir after 4 to 24 weeks. A remarkable improvement of lost abilities occurred in the follow-up, and they remained with residual spasticity and dysarthria but preserved cognitive function. Immunization or febrile illness occurred before disease onset in all patients. CSF was normal in two patients, and in four, borderline or mild lymphocytosis was present. A brain CT scan disclosed a subtle basal ganglia calcification in one of six patients. Brain MRI showed asymmetric signal abnormalities of white matter with centrum semi-ovale involvement in five patients and a diffuse white matter abnormality with contrast enhancement in one. Four patients were diagnosed and treated for acute demyelinating encephalomyelitis (ADEM). Brain imaging was markedly improved with one year or more of follow-up (average of 7 years), but patients remained with residual spasticity and dysarthria without cognitive impairment. Demyelination relapse occurred in a single patient four years after the first event. Whole-exome sequencing (WES) was performed in all patients: four of them disclosed biallelic pathogenic variants in RNASEH2B (three homozygous p.Ala177Thr and one compound heterozygous p.Ala177Thr/p.Gln58*) and in two of them the same homozygous deleterious variants in RNASEH2A (p.Ala249Val). Conclusions: This report expands the phenotype of AGS to include subacute developmental regression with partial clinical and neuroimaging improvement. Those clinical features might be misdiagnosed as ADEM.
- Imaging of Central Nervous System Parasitic Infections(2023) MIRANDA, Thiago Augusto Vasconcelos; TSUCHIYA, Kazuhiro; LUCATO, Leandro Tavares
- Dandy-Walker Phenotype with Brainstem Involvement: 2 Distinct Subgroups with Different Prognosis(2023) ALVES, C. A. P. F.; SIDPRA, J.; MANTEGHINEJAD, A.; SUDHAKAR, S.; MASSEY, F. V.; ALDINGER, K. A.; HALDIPUR, P.; LUCATO, L. T.; FERRACIOLLI, S. F.; TEIXEIRA, S. R.; OZTEKIN, O.; BHATTACHARYA, D.; TARANATH, A.; PRABHU, S. P.; MIRSKY, D. M.; ANDRONIKOU, S.; MILLEN, K. J.; BARKOVICH, A. J.; BOLTSHAUSER, E.; DOBYNS, W. B.; BARKOVICH, M. J.; WHITEHEAD, M. T.; MANKAD, K.BACKGROUND AND PURPOSE: Although cardinal imaging features for the diagnostic criteria of the Dandy-Walker phenotype have been recently defined, there is a large range of unreported malformations among these patients. The brainstem, in particular, deserves careful attention because malformations in this region have potentially important implications for clinical outcomes. In this article, we offer detailed information on the association of brainstem dysgenesis in a large, multicentric cohort of patients with the Dandy-Walker phenotype, defining different subtypes of involvement and their potential clinical impact. MATERIALS AND METHODS: In this established multicenter cohort of 329 patients with the Dandy-Walker phenotype, we include and retrospectively review the MR imaging studies and clinical records of 73 subjects with additional brainstem malformations. Detailed evaluation of the different patterns of brainstem involvement and their potential clinical implications, along with comparisons between posterior fossa measurements for the diagnosis of the Dandy-Walker phenotype, was performed among the different subgroups of patients with brainstem involvement. RESULTS: There were 2 major forms of brainstem involvement in patients with Dandy-Walker phenotype including the following: 1) the mild form with anteroposterior disproportions of the brainstem structures ""only"" (57/73; 78%), most frequently with pontine hypoplasia (44/57; 77%), and 2) the severe form with patients with tegmental dysplasia with folding, bumps, and/or clefts (16/73; 22%). Patients with severe forms of brainstem malformation had significantly increased rates of massive ventriculomegaly, additional malformations involving the corpus callosum and gray matter, and interhemispheric cysts. Clinically, patients with the severe form had significantly increased rates of bulbar dysfunction, seizures, and mortality. CONCLUSIONS: Additional brainstem malformations in patients with the Dandy-Walker phenotype can be divided into 2 major subgroups: mild and severe. The severe form, though less prevalent, has characteristic imaging features, including tegmental folding, bumps, and clefts, and is directly associated with a more severe clinical presentation and increased mortality.
- Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation(2023) CAMELO, Clara Gontijo; ARTILHEIRO, Mariana Cunha; MORENO, Cristiane Araujo Martins; FERRACIOLLI, Suely Fazio; SILVA, Andre Macedo Serafim; FERNANDES, Tatiana Ribeiro; LUCATO, Leandro Tavares; ROCHA, Antonio Jose; REED, Umbertina Conti; ZANOTELI, EdmarBackground: LAMA2-related muscular dystrophy is a disorder that causes muscle weakness and varies in severity, from a severe, congenital type to a milder, late-onset form. However, the disease does not only affect the muscles, but has systemic involvement and can lead to alterations such as brain malformation, epilepsy and intellectual disability. Objective: Describe the frequency of cortical malformations, epilepsy and intellectual disability in LAMA2-RD in a Brazilian cohort and correlate the neurological findings to genetic and motor function. Methods: This is an observational study of 52 LAMA2-RD patients, who were divided into motor function subgroups and compared based on brain MRI findings, epilepsy, intellectual disability, and type of variants and variant domains. Results: 44 patients (84.6%) were only able to sit, and 8 patients (15.4%) were able to walk. 10 patients (19.2%) presented with cortical malformations (polymicrogyria, lissencephaly-pachygyria, and cobblestone),10 patients (19.2%) presented with epilepsy, and 8 (15.4%) had intellectual disability. CNS manifestations correlated with a more severe motor phenotype and none of the patients able to walk presented with cortical malformation or epilepsy. There was a relation between gene variants affecting the laminin-alpha 2 LG-domain and the presence of brain malformation (P = 0.016). There was also a relation between the presence of null variants and central nervous system involvement. A new brazilian possible founder variant was found in 11 patients (21,15%) (c.1255del; p. Ile419Leufs* 4). Conclusion: Cortical malformations, epilepsy and intellectual disability are more frequent among LAMA2-RD patients than previously reported and correlate with motor function severity and the presence of variants affecting the laminin-alpha 2 LG domain. This brings more insight for phenotype-genotype correlations, shows the importance of reviewing the brain MRI of patients with LAMA2-RD and allows greater attention to the risk of brain malformation, epilepsy, and intellectual disability in those patients with variants that affect the LG domain.
- Paracentral Acute Middle Maculopathy Associated with Severe Anti-Mog (Myelin Oligodendrocyte Glycoprotein)-Positive Optic Neuritis(2023) FERNANDES, Rodrigo Dahia; ANDRADE, Thais de Souza; PRETI, Rony C. C.; ZACHARIAS, Leandro C. C.; SILVA, Guilherme Diogo; LUCATO, Leandro Tavares; APOSTOLOS-PEREIRA, Samira L. L.; CALLEGARO, Dagoberto; MONTEIRO, Mario Luiz R.Retinal complications in patients with inflammatory optic neuritis (ON) are generally related to post-infectious neuroretinitis and are considered uncommon in autoimmune/demyelinating ON, whether isolated or caused by multiple sclerosis (MS) or neuromyelitis optica spectrum disorder (NMOSD). More recently, however, cases with retinal complications have been reported in subjects positive for myelin oligodendrocyte glycoprotein (MOG) antibodies. We report a 53-year-old woman presenting with severe bilateral ON associated with a focal area of paracentral acute middle maculopathy (PAMM) in one eye. Visual loss recovered remarkably after high-dose intravenous corticosteroid treatment and plasmapheresis, but the PAMM lesion remained visible on both optical coherence tomography and angiography as an ischaemic lesion affecting the middle layers of the retina. The report emphasises the possible occurrence of retinal vascular complications in MOG-related optic neuritis, an important addition to the diagnosis of, and possible differentiation from, MS-related or NMOSD-related ON.
- Glioneuronal and Neuronal Tumors: Who? When? Where? An Update Based on the 2021 World Health Organization Classification(2023) AYRES, A. S.; BANDEIRA, G. A.; FERRACIOLLI, S. F.; TAKAHASHI, J. T.; MORENO, R. A.; GODOY, L. F. de Souza; CASAL, Y. R.; LIMA, L. G. C. A. de; FRASSETO, F. P.; LUCATO, L. T.Neuronal and glioneuronal tumors usually have a benign course and may have typical imaging characteristics, allowing their diagnosis based on MR imaging findings. The most common lesions are dysembryoplastic neuroepithelial tumors and gangliogliomas, which have typical imaging characteristics. The fifth edition of the World Health Organization Classification of Tumors of the Central Nervous System, recently published in 2021, places greater emphasis on molecular markers to classify tumors of the CNS, leading to extensive changes in the classification of tumors, including neuronal and glioneuronal tumors. The 2021 revision included 3 new tumors types: multinodular and vacuolating neuronal tumor, diffuse glioneuronal tumor with oligodendroglioma-like features and nuclear clusters (a provisional type), and myxoid glioneuronal tumor. Following these recent changes in the World Health Organization classification, we aimed to review the main imaging features of these lesions in relation to their histopathologic and molecular features. Learning Objectives: To list the neuronal and glioneuronal tumors; recognize the main imaging findings and histologic characteristics of neuronal and glioneuronal tumors; know the typical location of each neuronal and glioneuronal tumor; and become familiar with the main molecular alterations of neuronal and glioneuronal tumors to better understand their behavior
- Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia(2022) FREUA, Fernando; ALMEIDA, Mariana Espindola de Castro; NOBREGA, Paulo Ribeiro; PAIVA, Anderson Rodrigues Brandao de; DELLA-RIPA, Bruno; CUNHA, Paulina; MACEDO-SOUZA, Lucia Ines; BUENO, Clarissa; LYNCH, David S. S.; HOULDEN, Henry; LUCATO, Leandro Tavares; KOK, FernandoArgininemia or arginase deficiency is a metabolic disorder caused by pathogenic variants in ARG1 and consists of a variable association of progressive spastic paraplegia, intellectual disability, and seizures. Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder characterized by lower limb spasticity. This study presents seven patients with arginase 1 deficiency from six different families, all with an initial diagnosis of complicated HSP. We evaluated the clinical data of seven patients belonging to six independent families who were diagnosed with hyperargininemia in a neurogenetics outpatient clinic. All patients had lower limb spasticity and six had global developmental delay. Five individuals had intellectual disability and two had epilepsy. Psychiatric abnormalities were seen in two patients. In two participants of this study, magnetic resonance imaging (MRI) disclosed thinning of the corpus callosum. Molecular diagnosis was made by whole-exome sequencing. All variants were present in homozygosis; we identified two novel missense variants, one novel frameshift variant, and one previously published missense variant. A clinical diagnosis of early-onset complicated hereditary spastic paraplegia was made in all patients. Two patients were initially suspected of having SPG11 because of thinning of the corpus callosum. As argininemia may present with a highly penetrant phenotype of spastic paraplegia associated with additional symptoms, this disease may represent a specific entity among the complicated HSPs.